Canonical Allele Identifier: CA015708

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200060
• ClinVar RCV Id: RCV000181539 ; RCV000663767
• dbSNP Id: rs794728234
• MyVariant Identifiers: chr15:g.48755295A>T (hg19) ; chr15:g.48463098A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463098A>T , CM000677.2:g.48463098A>T	GRCh38
NC_000015.9:g.48755295A>T , CM000677.1:g.48755295A>T	GRCh37
NC_000015.8:g.46542587A>T	NCBI36
NG_008805.2:g.187691T>A , LRG_778:g.187691T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5208T>A	ENSP00000453958.2:p.Cys1736Ter
ENST00000674301.2:c.5208T>A	ENSP00000501333.2:p.Cys1736Ter
ENST00000684448.1:n.3882T>A
ENST00000316623.10:c.5208T>A MANE Select	ENSP00000325527.5:p.Cys1736Ter
ENST00000674301.1:c.207T>A	ENSP00000501333.1:p.Cys69Ter
ENST00000316623.9:c.5208T>A	ENSP00000325527.5:p.Cys1736Ter
ENST00000537463.6:c.*971T>A	ENSP00000440294.2:n.*971T>A
ENST00000559133.5:c.515T>A
NM_000138.4:c.5208T>A , LRG_778t1:c.5208T>A	NP_000129.3:p.Cys1736Ter
NM_000138.5:c.5208T>A MANE Select	NP_000129.3:p.Cys1736Ter